Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy-Reference-Cited by-同舟云学术

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Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy

Published:2023-03-12 Issue:2 Volume:104 Page:266-268
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Noor Ul Ayan Hafiza¹²^ORCID,Ali Pir Sheeraz³,Korejo Asad Aslam³,Thiele Holger⁴,Nürnberg Peter⁴^ORCID,Tariq Muhammad²^ORCID,Jamal Syed Zahid³,Erdmann Jeanette¹^ORCID,Ahmad Ilyas¹^ORCID

Affiliation:

1. Institute for Cardiogenetics University of Lübeck, DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, and University Heart Center Lübeck Lübeck Germany

2. National Institute for Biotechnology and Genetic Engineering College Pakistan Institute of Engineering and Applied Sciences (NIBGE‐C, PIEAS) Faisalabad Pakistan

3. National Institute of Cardiovascular Disease Karachi Pakistan

4. Cologne Center for Genomics (CCG), Faculty of Medicine University Hospital Cologne, University of Cologne Cologne Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14321

Reference3 articles.

1. Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

2. Altered Electrical, Biomolecular, and Immunologic Phenotypes in a Novel Patient-Derived Stem Cell Model of Desmoglein-2 Mutant ARVC

3. Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles

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